ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.89T>C (p.Leu30Pro)

dbSNP: rs934921076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002815976 SCV003210714 uncertain significance MHC class I deficiency 2022-05-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with TAP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 90 of the TAP1 protein (p.Leu90Pro).
Ambry Genetics RCV005288825 SCV005952216 uncertain significance Inborn genetic diseases 2024-12-11 criteria provided, single submitter clinical testing The c.269T>C (p.L90P) alteration is located in exon 1 (coding exon 1) of the TAP1 gene. This alteration results from a T to C substitution at nucleotide position 269, causing the leucine (L) at amino acid position 90 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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